Familial hypercholesterolaemia with cardiovascular disease：a case report
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Abstract
A 56-year-old female with definite FH was reported based on clinical algorithms. Whole exome sequencing identified a heterozygous LDLR mutation (c.1599G>A), which is pathogenic according to ACMG guidelines. Sanger sequencing was performed in family members, and the mutation site was co-segregated with the disease in the family.
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- last seen: 2026-05-19T01:45:01.086888+00:00